Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial delet...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Srikanth, Sujata, Jain, Lavanya, Zepeda-Mendoza, Cinthya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, DuPont, Barb, Rogers, Curtis, Sarasua, Sara, Phelan, Katy, Morton, Cynthia, Boccuto, Luigi
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2021
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8259982/
https://ncbi.nlm.nih.gov/pubmed/34228749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0253859
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